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Research

Publications: Dr Letizia Vestito

Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A et al. ( 2022 ) . Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy . Genetics in Medicine vol. 24 , ( 10 ) 2079 - 2090 .
Chen Z, Cipriani V, Zhang D, Tucci A, Vestito L, Smedley D, Houlden H, Botia J et al. ( 2022 ) . 022 Functional genomics and transcriptomics further characterise and potentially improve diagnostic yield of hereditary ataxias . Journal of Neurology Neurosurgery & Psychiatry vol. 93 , ( 6 ) a107.3 - a1a108 .
Montalban E, Giralt A, Taing L, Schut EHS, Supiot LF, Castell L, Nakamura Y, de Pins B et al. ( 2022 ) . Translational profiling of mouse dopaminoceptive neurons reveals region-specific gene expression, exon usage, and striatal prostaglandin E2 modulatory effects . Molecular Psychiatry vol. 27 , ( 4 ) 2068 - 2079 .
Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G et al. ( 2021 ) . 100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report . New England Journal of Medicine vol. 385 , ( 20 ) 1868 - 1880 .
Konopka T, Vestito L, Smedley D ( 2021 ) . Dimensional reduction of phenotypes from 53 000 mouse models reveals a diverse landscape of gene function . Bioinform Adv vol. 1 , ( 1 )
Smedley D, Abbs S, Arno G, Baple E, Barnes M, Beales P, Bitner-Glindzicz M, Black G et al. ( 2020 ) . The impact of the 100,000 Genomes Project on rare disease in national healthcare . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 28 , 54 - 55 .
Bryant D, Seda M, Peskett E, Maurer C, Pomeranz G, Ghosh M, Hawkins TA, Cleak J et al. ( 2020 ) . Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations . Sci Rep vol. 10 , ( 1 )